About the Authors

Anne-Sophie Jannot

Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France

Anna Pelet

Contributed equally to this work with: Anna Pelet, Alexandra Henrion-Caude

Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France

Alexandra Henrion-Caude

Contributed equally to this work with: Anna Pelet, Alexandra Henrion-Caude

Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France

Asma Chaoui

Affiliation INSERM U-955, Créteil, France

Marine Masse-Morel

Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France

Stacey Arnold

Affiliation Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

Damien Sanlaville

Affiliations HCL, Service de génétique, Bron, France, INSERM U-1028, CNRS UMR5292, Université Claude Bernard Lyon 1, Equipe TIGER, Lyon, France

Isabella Ceccherini

Affiliation Laboratorio di Genetica Molecolare, Istituto Gaslini, Genova, Italy

Salud Borrego

Affiliations Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain, CIBER de Enfermedades Raras, ISCIII, Sevilla, Spain

Robert M. W. Hofstra

Affiliation Department of Clinical Genetics, ErasmusMC, University of Rotterdam, Rotterdam, The Netherlands

Arnold Munnich

Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France

Nadège Bondurand

Affiliation INSERM U-955, Créteil, France

Aravinda Chakravarti

Affiliation Center for Complex Disease Genomics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America

Françoise Clerget-Darpoux

Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France

Jeanne Amiel

Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France

Stanislas Lyonnet

stanislas.lyonnet@inserm.fr

Affiliations INSERM U-781, AP-HP Hôpital Necker-Enfants Malades, Paris, France, Département de Génétique, Université Paris Descartes, Faculté de Médecine, Paris, France

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Read and commented on the earlier drafts of this manuscript: AP FCD IC SL A.Chakravarti. Conceived and designed the experiments: ASJ AP AHC DS IC SB RMWH AM NB JA SL A. Chakravarti. Performed the experiments: AC SA AP AHC NB A.Chaoui A. Chakravarti. Analyzed the data: ASJ AHC JA. Contributed reagents/materials/analysis tools: ASJ MMM. Wrote the paper: ASJ AHC JA NB FCD.